Arrhythmias & electrophysiology
Genetic testing for inherited arrhythmia syndromes and cardiomyopathies: results of the European Heart Rhythm Association survey
Authors' conclusion
This survey highlights a significant heterogeneity of genetic testing access and provision and issues attributable to the availability of dedicated unit/genetic laboratory and reimbursement. However, adequate adherence to indications in the current recommendations for genetic testing in patients with cardiac diseases was observed.
Study context
- Population
- Physicians across ESC countries (European Heart Rhythm Association (EHRA) Research Network and ERN GUARD-Heart partners)
- Participants
- 357 physicians · 69 countries
- Outcome
- Current clinical practice and access to genetic testing for cardiac diseases, and adherence to the 2022 EHRA/HRS/APHRS/LAHRS Expert Consensus Statement
Methodological detailsphysician-based survey, online questionnaire, Online questionnaire of 28 questions
- Physician-based survey
- Online questionnaire
- Online questionnaire of 28 questions
Main finding
As reported in the abstract
- Hospital with cardiac genetic service and/or inherited cardiac disease clinic
- 40%
- Onsite genetic laboratory
- 27%
- No genetic testing or low annual rate (<10/year)
- 39%
- Issues or limitations to genetic testing access
- 78%
- Reason: no dedicated unit or genetic laboratory
- 35%
- Reason: reimbursement issues
- 25%
- Most frequent indication: diagnostic purpose
- 55%
- Genetic testing preceded by genetic counselling
- 92%
- Regular multidisciplinary evaluations
- 42%
- Perceived diagnostic value
- 67%
- Perceived prognostic value
- 39%
- Perceived therapeutic value
- 29%
Observational data: associations, not effects.
Original publication
Genetic testing for inherited arrhythmia syndromes and cardiomyopathies: results of the European Heart Rhythm Association survey. Europace. Published 16 August 2024. doi:10.
Summarised from the published abstract; every number is checked against it